X-LINKED NEONATAL MYOTUBULAR MYOPATHY - ONE RECOMBINATION DETECTED WITH 4 POLYMORPHIC DNA MARKERS FROM XQ28

被引：31

作者：

LEHESJOKI, AE

SANKILA, EM

MIAO, J

SOMER, M

SALONEN, R

RAPOLA, J

DELACHAPELLE, A

机构：

[1] POPULAT & FAMILY WELF FEDERAT,DEPT MED GENET,HELSINKI,FINLAND

[2] UNIV HELSINKI,CENT HOSP,DEPT OBSTET & GYNECOL,PRENATAL GENET LAB,SF-00100 HELSINKI 10,FINLAND

[3] UNIV HELSINKI,DEPT PATHOL,SF-00100 HELSINKI 10,FINLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 05期

关键词：

D O I：

10.1136/jmg.27.5.288

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.

引用

页码：288 / 291

页数：4

共 6 条

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